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ClinicalTrials.gov public records Last synced Oct 7, 2026, 1:15 AM EDT

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Showing 121–144 of 934 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Diseases, X-Linked Clear all
No Longer Available No phase listed Expanded access

Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

NCT01461304
View directory record Official record
Conditions
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency, Glycogen Storage Disorders, Pyruvate Carboxylase Deficiency Disease, ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY of, Barth Syndrome
Interventions
triheptanoin
Drug
Lead sponsor
Jerry Vockley, MD, PhD
Other
Eligibility
1 Month and older
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Dec 10, 2021 · Synced Oct 7, 2026, 1:15 AM EDT
Active, not recruiting Phase 3 Interventional

Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:

NCT02616484
View directory record Official record
Conditions
Pyruvate Dehydrogenase Complex Deficiency
Interventions
Dichloroacetate (DCA), Placebo, Genotype
Drug · Other · Genetic
Lead sponsor
Saol Therapeutics Inc
Industry
Eligibility
6 Months to 17 Years
Enrollment
34 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
10
States / cities
Orange, California • Stanford, California • Washington D.C., District of Columbia + 7 more
Source: ClinicalTrials.gov public record
Updated May 4, 2025 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Phase 3 Interventional Results available

Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease

NCT01124643
View directory record Official record
Conditions
Fabry Disease
Interventions
Replagal
Biological
Lead sponsor
Shire
Industry
Eligibility
18 Years and older
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
2
States / cities
Iowa City, Iowa • Fairfax, Virginia
Source: ClinicalTrials.gov public record
Updated Jun 8, 2021 · Synced Oct 7, 2026, 1:15 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Wearable Technology to Assess Gait Function in SMA and DMD

NCT04193085
View directory record Official record
Conditions
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy
Interventions
Observational
Other
Lead sponsor
Columbia University
Other
Eligibility
5 Years and older
Enrollment
39 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2023
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 23, 2024 · Synced Oct 7, 2026, 1:15 AM EDT
Active, not recruiting Phase 2 Interventional

A Phase 2 Open-label Study to Evaluate the Safety of Laruparetigene Zovaparvovec Administered Bilaterally in Male Participants With X-Linked Retinitis Pigmentosa

NCT07174726
View directory record Official record
Conditions
X-Linked Retinitis Pigmentosa (XLRP)
Interventions
Adeno-associated virus vector expressing a human RPGR gene
Biological
Lead sponsor
Beacon Therapeutics
Industry
Eligibility
12 Years to 50 Years · Male only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
6
States / cities
Jacksonville, Florida • Miami, Florida • Durham, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 25, 2026 · Synced Oct 7, 2026, 1:15 AM EDT
Completed No phase listed Observational

Study of Prophylaxis, ACtivity and Effectiveness (SPACE) in Hemophilia Patients Currently Treated With ADVATE or RIXUBIS

NCT02190149
View directory record Official record
Conditions
Hemophilia A, Hemophilia B
Interventions
ADVATE (Antihemophilic Factor [Recombinant]), RIXUBIS (Coagulation Factor IX [Recombinant])
Biological
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
13 Years to 65 Years
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
17
States / cities
Los Angeles, California • San Diego, California • Aurora, Colorado + 14 more
Source: ClinicalTrials.gov public record
Updated Mar 17, 2021 · Synced Oct 7, 2026, 1:15 AM EDT
Completed No phase listed Observational

Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease

NCT03548818
View directory record Official record
Conditions
Chronic Granulomatous Disease
Interventions
Interferon Gamma-1B
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
5 Years to 60 Years
Enrollment
9 participants
Timeline
2018 – 2020
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 22, 2021 · Synced Oct 7, 2026, 1:15 AM EDT
Recruiting No phase listed Observational

A Study Evaluating the Real-World Experience of Givinostat in Patients With Duchenne Muscular Dystrophy

NCT07127978
View directory record Official record
Conditions
Duchene Muscular Dystrophy
Interventions
Not listed
Lead sponsor
ITF Therapeutics LLC
Industry
Eligibility
6 Years and older
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
9
States / cities
Little Rock, Arkansas • Washington D.C., District of Columbia • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Jul 2, 2026 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Not applicable Interventional Results available

Cardiomyopathy in DMD: Lisinopril vs. Losartan

NCT01982695
View directory record Official record
Conditions
Duchenne Muscular Dystrophy (DMD), Cardiomyopathy
Interventions
Losartan, Lisinopril
Drug
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
Male only
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
6
States / cities
Davis, California • Kansas City, Kansas • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Mar 21, 2017 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Assess the Safety, Tolerability and Pharmacokinetics of AZD5055 Following Single and Multiple Ascending Doses in Healthy Participants

NCT05134727
View directory record Official record
Conditions
Idiopathic Pulmonary Fibrosis
Interventions
AZD5055, Placebo
Drug
Lead sponsor
AstraZeneca
Industry
Eligibility
18 Years to 55 Years
Enrollment
63 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2023
U.S. locations
1
States / cities
Brooklyn, Maryland
Source: ClinicalTrials.gov public record
Updated May 16, 2024 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy

NCT01594853
View directory record Official record
Conditions
X-linked Adrenoleukodystrophy
Interventions
exercise training
Behavioral
Lead sponsor
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Other
Eligibility
21 Years to 70 Years · Female only
Enrollment
31 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2014
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 29, 2018 · Synced Oct 7, 2026, 1:15 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I, II, and VI

NCT03153319
View directory record Official record
Conditions
Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis VI
Interventions
Adalimumab Injection [Humira], Saline Solution for Injection
Drug
Lead sponsor
Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Other
Eligibility
5 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
1
States / cities
Torrance, California
Source: ClinicalTrials.gov public record
Updated Feb 2, 2026 · Synced Oct 7, 2026, 1:15 AM EDT
Completed No phase listed Observational

Data Collection in Women With Fabry Disease

NCT00030134
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Female only
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 4, 2008 · Synced Oct 7, 2026, 1:15 AM EDT
Terminated Phase 2 Interventional Results available

A Phase 2 Study to Evaluate the Safety, Efficacy, Pharmacokinetics and Pharmacodynamics of PF-06252616 in Duchenne Muscular Dystrophy

NCT02310763
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
PF-06252616, Placebo
Biological · Drug
Lead sponsor
Pfizer
Industry
Eligibility
6 Years to 15 Years · Male only
Enrollment
121 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
30
States / cities
Los Angeles, California • Sacramento, California • Aurora, Colorado + 14 more
Source: ClinicalTrials.gov public record
Updated Dec 7, 2020 · Synced Oct 7, 2026, 1:15 AM EDT
Withdrawn Phase 4 Interventional

A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)

NCT05494593
View directory record Official record
Conditions
Mucopolysaccharidosis (MPS), Hunter Syndrome
Interventions
ELAPRASE, Rituximab, Methotrexate, Intravenous Immunoglobulin (IVIG)
Drug
Lead sponsor
Takeda
Industry
Eligibility
Up to 6 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
8
States / cities
Phoenix, Arizona • Oakland, California • San Diego, California + 5 more
Source: ClinicalTrials.gov public record
Updated Dec 9, 2025 · Synced Oct 7, 2026, 1:15 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Parent and Infant Inter(X)Action Intervention (PIXI)

NCT03836300
View directory record Official record
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Oct 7, 2026, 1:15 AM EDT
Recruiting Phase 1Phase 2 Interventional

A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia

NCT06525636
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
KK8123
Drug
Lead sponsor
Kyowa Kirin Co., Ltd.
Industry
Eligibility
18 Years to 65 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
5
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Phase 3 Interventional Results available

Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases

NCT01963143
View directory record Official record
Conditions
Primary Immune Deficiency Disorders, Common Variable Immunodeficiency, X-linked Agammaglobulinaemia, Hyper-IgM Syndrome
Interventions
Gammaplex (5%), Gammaplex 10
Biological
Lead sponsor
Bio Products Laboratory
Other
Eligibility
2 Years to 55 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
14
States / cities
Chandler, Arizona • Long Beach, California • Los Angeles, California + 10 more
Source: ClinicalTrials.gov public record
Updated Mar 29, 2017 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Phase 2 Interventional Results available

Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)

NCT02153723
View directory record Official record
Conditions
Rett Syndrome
Interventions
Glatiramer Acetate
Drug
Lead sponsor
Montefiore Medical Center
Other
Eligibility
10 Years and older · Female only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
1
States / cities
The Bronx, New York
Source: ClinicalTrials.gov public record
Updated Nov 5, 2018 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD

NCT02834650
View directory record Official record
Conditions
Muscular Dystrophy, Duchenne
Interventions
Cardiac MRI with contrast, Cardiac MRI without contrast, Blood Test, Heart Rate, Pulmonary Function Test, Genetic Testing, Repeat MRI scan
Other
Lead sponsor
Stanford University
Other
Eligibility
7 Years to 21 Years · Male only
Enrollment
89 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2022
U.S. locations
3
States / cities
Los Angeles, California • Orange, California • Stanford, California
Source: ClinicalTrials.gov public record
Updated May 10, 2022 · Synced Oct 7, 2026, 1:15 AM EDT
Recruiting No phase listed Observational

Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding

NCT06941025
View directory record Official record
Conditions
Fabry Disease, Pregnancy, Pregnancy Complications
Interventions
Not applicable- observational study
Other
Lead sponsor
Chiesi Farmaceutici S.p.A.
Industry
Eligibility
Female only
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2034
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Mar 19, 2026 · Synced Oct 7, 2026, 1:15 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)

NCT04944940
View directory record Official record
Conditions
Spinal and Bulbar Muscular Atrophy, Kennedys Disease, Motor Neuron Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
18 Years to 120 Years · Male only
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Oct 7, 2026, 1:15 AM EDT
Completed Phase 3 Interventional Results available

HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients

NCT03569891
View directory record Official record
Conditions
Hemophilia B
Interventions
AAV5-hFIXco-Padua, Factor IX (FIX)
Genetic · Biological
Lead sponsor
CSL Behring
Industry
Eligibility
18 Years and older · Male only
Enrollment
67 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
19
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 14 more
Source: ClinicalTrials.gov public record
Updated Mar 27, 2026 · Synced Oct 7, 2026, 1:15 AM EDT